Summary

Gene Name	PYROXD1
Specie	Homo sapiens
Full Name	pyridine nucleotide-disulphide oxidoreductase domain 1
Also known as	MFM8
Coordinate	chr12:21437630-21471250
Strand	+
Gene summary	This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]

Retrocopy(s) from PYROXD1

Retroname	Coord	Strand	Genomic Region	ENSG
PYROXD1P1	chr11:106823905-106827966	-	Intragenic	ENSG00000213252	UCSC

Expression

Transcript Sequences

>NM_024854.5

GGCTGCTTCCTCTCCTGGAGTCCAGAGTCCCGTTGCTCCGCCGCGATATTCAGTAAACCACTGGGAGTCCGGCAGCATGGAGGCAGCGCGCCCTCCCCCGACGGCAGGGAAGTTCGTGGTGGTCGGCGGCGGCATCGCGGGCGTCACTTGTGCGGAGCAGTTGGCTACTCACTTTCCATCGGAAGATATTCTCTTGGTAACAGCTTCTCCTGTTATTAAAGCAGTTACAAATTTCAAGCAGATTTCTAAAATATTGGAAGAATTCGATGTTGAAGAACAATCAAGTACCATGTTAGGAAAACGCTTTCCCAACATTAAGGTTATAGAATCTGGCGTAAAGCAACTGAAGAGTGAAGAACACTGCATTGTAACAGAAGATGGCAATCAGCACGTATATAAGAAACTCTGTCTGTGTGCTGGAGCTAAACCAAAGTTGATATGTGAAGGAAATCCTTATGTATTAGGAATCCGTGATACAGACAGTGCTCAGGAATTTCAGAAACAGCTTACTAAAGCTAAAAGAATAATGATCATAGGGAACGGTGGTATTGCACTTGAGTTAGTGTATGAAATTGAAGGCTGTGAAGTGATTTGGGCCATTAAAGATAAAGCTATAGGGAATACTTTCTTCGATGCAGGAGCAGCTGAATTCTTGACTTCAAAGCTCATTGCTGAAAAATCAGAGGCTAAAATTGCACATAAAAGAACCAGATATACAACTGAAGGAAGGAAAAAGGAAGCTAGAAGCAAATCTAAAGCAGATAATGTAGGAAGTGCATTGGGACCAGATTGGCATGAAGGCTTGAATCTTAAAGGAACAAAAGAGTTTTCTCATAAGATTCACCTTGAAACTATGTGTGAAGTAAAGAAAATCTACCTTCAGGATGAGTTTAGAATTTTGAAGAAAAAGTCCTTCACTTTTCCAAGAGACCATAAGTCAGTTACAGCTGATACAGAGATGTGGCCTGTCTATGTGGAATTGACCAATGAAAAGATATATGGCTGCGATTTCATTGTCAGTGCTACAGGAGTTACACCAAATGTAGAACCTTTTCTCCATGGTAACAGTTTTGATCTAGGAGAAGATGGTGGCCTGAAAGTGGATGATCATATGCACACATCCCTTCCTGATATCTATGCTGCCGGTGACATCTGTACTACATCCTGGCAGCTGAGCCCAGTCTGGCAGCAGATGAGGCTGTGGACCCAGGCTAGACAGATGGGATGGTATGCAGCAAAGTGCATGGCTGCAGCGAGTTCAGGAGACTCTATTGACATGGATTTCAGCTTTGAACTGTTTGCTCATGTGACAAAATTTTTTAACTATAAGGTTGTACTGCTGGGAAAATACAATGCACAGGGCTTAGGTTCAGATCATGAATTAATGCTGAGATGTACCAAAGGACGAGAATACATCAAAGTCGTCATGCAAAATGGACGAATGATGGGAGCTGTCTTAATTGGTGAAACCGATTTAGAAGAAACATTTGAAAACCTAATCTTAAACCAAATGAATCTTTCATCATATGGAGAAGATCTGCTAGATCCAAATATTGATATAGAAGATTATTTTGACTAAAAATGGAATTTCTTCAGGAATCATATAAAGTTCCAAATGACACCAGAAAAATCACAAGTCAATAAAATGAATGACTGTATTGAGTTAATGATGACCACACTGAAAATTACAGAAGTGATAATGATATTAGTGGAAAAATATAAAAACATAAATTCTAAGTTTGAAATCAGTTCAAAGTTTATTTATAGATATATCTTTCCAATACAACACTGACCGCTTAGATAAAAATCTTAAGTTATTTATTTCTGTGTTTTAAACATAAATATGTTTACTTGTGATTTAGCTTTGGAGCAAATTTAGGTAAGTTATCTACTTAGCCAAATGTACTCTAGTAGACTAGAACCATTCTTTGTGAAATGTCAAAATATGGCTATGGTTTCAGGAACTTTAAAATCGGTTGTATTTTACTTTAAATAGAGATGTAGCAATATCTCGTTTGCTAATATTTATATTGATGACTTACTCCTTTTTTGTTGAATTGTACTTCTGGTTTTATAACCTGAAATCATCTAcaagcttgtccaactctagcccacgggtctaatgcagcccagaacagctttgaatgcagcccaacacaaatctgtaaactttcttaaaacatgagatttttcttgcaatttttttttttttaagctcatcagctatcgtcagtgttagcatattttatgtgcggcccaagacaattcttcttccaatgtggctcagggaagccaaaagattggacatccctgATCTACATATTTAACTTAAAGTATCACTCAGTGAACCTCTGTCAGTATAATATTGCTTTCAAAAAGATGGTTATGTCAAAAGAAAAAATATAGCTAAGTATATAAAGGCATAAAAAACTTAAGACAATTACATGAACTTATTCTCAAATATTTTACATTTtttgtaaactttcttaaaacatgagatttttcttgcaattttttttttaagctcatcagctatcatcagtgttagcatattttatgtgcggcccaagacaattcttcttccaatgtggctcagggaagccaaaagattggacatccttgATCTACATATTTAACTTAAAGTATCACTCAGTGAGCCTCTGTCAGTATAATATTGCTTTCAAAAAGATAGTTATGTCAAAAGAAAAAATATAGCTAAGTATATAAAGGCATAAAAAACTTAAGACGATTGTATGAACTTATTCTCAAATATTTTACATTTAAAGGGTTTTACATAAAAATTTTTCCCTTGTTTTATACTGGAAAATTATATAATTCATGATCTCTAATTTTCAAACATTCTCAAAAGTTTAGATCTTCAGAGATAAGCTCTGAAAATATAGATCCATACATATAAAATATCTATGAAATTCTTTTAAAAACTATTGTCTAACTACAAAAATAATGGCATATACATGCATAAACCATCTTTAATTAGAAAATTTAGTAACATTCATATCAGGCATCATCGATTTTTCTTTTCTTAGCTCCTGTATTCTTAGAACCAGATTGCTGAAGCATGTTTGCAGCCTTCTTCTGGAAGTTGCCTGAATTTTTTTCCTCCATCTTTTTATCACCTTGTTCAGAATGACAAGTTTGAGACGATTCAGCCTACaaaaaaaaaaaaaaaacaaaGCAAGCACCTTGGTAAAAATCCAGCTATTCAGTTTTCTCATGAGATTAAATATTTCAAAATATTCTTTCTGTATCAGTTGGCTTTTTAAGTATACAGGGGTCTAGTTTTTTATCTACAAATTTCTATTCAAATATGAGCTCTATTTTGAATAAAAGGGGCTACGTTGTGAGAGAAGTTCTAAAGACCTCAAATGTCCTTAGACACAATGGCACTTGACTTGACATGCTTTTGCAGACTTGATAGTATTTGGTTTAAAACAGTGGTTTCTAACCACTGGAACAGCAGAAACAGACTTCTCAACTATTAGTAATCACAACCAAATAAGAGCAGAGTGCATAACAAAATTAGATATTCAAACGGAGTCCTCCCATTCCAAGAAACTGGAAACCCCTAGTTTATGTTAAAAGGCCAGTCTAAATTCTTTCACTTACATCTTTACAGAAAACTATATTTTCTCTCTTCCATACCCAGAAATCTAATCAGAAAACTGACTTTTCTCATGTTCAACTGGACCTAGGGGAATATGACAGAAAAGCATCCCATAGGCTTTAATATACTTTTTAAAATATATAAAACTGAAAATTAATAGCCATTTACCCTGAAAGAGTTCTGCGTGGACTTTGTCACTTGCATAGTAATAGCATGTGCCTCATTGTTCAGAAGATTAGCTTTAGGTCCTATTTTCAAATACGAAATGGTAGCATAAGCTGTAAAACTGTAGTCTTCTCTGCAGAAAATAAAGGCCAACAATAAGAAAGCTTTTGAAGGAATCACGGAAAACAAATTTATAAAAGAAATAACTATATGCGCAGTAATTCTTAACACATTGACTTGAAATAATAAAATTTACAAGAATGCAAATAAAGCCTTTAAAGAAAA